[MIM 604 498]

(CAMT)

Very rare. Autosoma recessive  transmission of a mutation in the MPL gene (1p34.2).

Two types are distinguished:

• type 1: severe thrombocytopenia with no megakaryocytes, high thrombopoietin level and rapid progression to bone marrow aplasia
• type 2: less severe thrombocytopenia with a gradual increase in blood platelet levels during the first year of life; progression to bone marrow aplasia around 3 years of age.

A hypoplasia of the cerebellar vermis is often associated.

Treatment: very early bone marrow allograft (stem cells).

Anesthetic implications:

• before transplantation:  total blood count; blood platelets transfusion if bleeding, avoid NSAID's.
• after transplantation:  management of a patient with a bone marrow transplant

References : 

-        Boutroux H, Favier R, Héritier S, Lapillone H, Ballerini P, Leverger G.
Mise au point : les thrombopénies constitutionnelles.
J Pediatrie et Puériculture 2018 ; 31 : 160-7.

Updated: December 2020